Associated syndromes and other genetic variations at a South African cleft lip and palate clinic

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dc.contributor.author Van den Berg, H.J.S.
dc.contributor.author Du Plessis, Susanna M.
dc.contributor.author Butow, Kurt-Wilhelm
dc.contributor.author Honey, E.M.
dc.date.accessioned 2013-11-26T09:57:15Z
dc.date.available 2013-11-26T09:57:15Z
dc.date.issued 2009-06
dc.description.abstract A retrospective study was done of data on all patients registered at one of the largest cleft lip and palate clinics in South Africa (n = 3174). The associated syndromes and other genetic variations [(abbreviation:) ASGV] found in the population of persons suffering from facial cleft deformities (FCD) were analysed. 832 (26.2%) cleft lip and/ or palate patients presented with ASGV. Fifty-seven different types of syndromes were recorded of which the Fairbaim-Robin appearance (FRA) (or Pierre Robin sequence) 169 (5.3%), the Demarque-van der Woude syndrome 40 (1.3%), and the holoprosencephaly sequence cases 32 (1.0%) were the three most common ones. The three most common genetic variations found in the non-syndromic patients, were heart involvement 53(1.7%), club foot 42 (1.3%) and various eye problems 39 (1.2%). The main facial cleft deformity, namely the cleft lip, alveolus and palate (CLAP), was found in 26.2% o f the ASGV-group. This particular cleft deformity was recorded at 39.7% in the FCD clinic. On the other hand, the hard and soft palate cleft (hPsP) group was found in 32.9% of patients who also had ASGV; in the total group o f patients registered at the clinic, it accounted for only 16.6%. This means that ASGV occur less commonly in the CLAP group of patients, than in the hPsP group of patients. en_US
dc.description.librarian am2013 en_US
dc.description.librarian ay2013 en
dc.description.uri http://www.curationis.org.za en_US
dc.identifier.citation Van den Berg, HJS, Du Plessis, SM, Butow, K-W & Honey, EM 2009, 'Associated syndromes and other genetic variations at a South African cleft lip and palate clinic', Curationis, vol. 32, no. 2, pp. 53-58. en_US
dc.identifier.issn 0379-8577 (print)
dc.identifier.issn 223-6279 (online)
dc.identifier.uri http://hdl.handle.net/2263/32612
dc.language.iso en en_US
dc.publisher AOSIS Open Journals en_US
dc.rights Creative Commons license en_US
dc.subject Facial cleft deformity en_US
dc.subject Syndromes en_US
dc.subject Genetic variations en_US
dc.subject Cleft lip and/or palate en_US
dc.subject Cleft lip, alveolus and palate (CLAP) en_US
dc.subject.lcsh Cleft palate -- South Africa en
dc.title Associated syndromes and other genetic variations at a South African cleft lip and palate clinic en_US
dc.type Article en_US


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